| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168852_80168951del | CA2695206776 | BCKDHB | c.478-23_554del c.268-23_344del n.562-23_638del n.508-23_584del n.501-23_577del | |
| 6 | g.80168884G>A | CA364657709 | BCKDHB | c.487G>A (p.Glu163Lys) c.277G>A (p.Glu93Lys) n.571G>A n.517G>A n.510G>A | |
| 6 | g.80168884G>C | CA364657710 | BCKDHB | c.487G>C (p.Glu163Gln) c.277G>C (p.Glu93Gln) n.571G>C n.517G>C n.510G>C | |
| 6 | g.80168884G= | CA1640937739 | BCKDHB | c.487G= (p.Glu163=) c.277G= (p.Glu93=) n.571G= n.517G= n.510G= | |
| 6 | g.80168884G>T | CA16041095 | BCKDHB | c.487G>T (p.Glu163Ter) c.277G>T (p.Glu93Ter) n.571G>T n.517G>T n.510G>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.80168885A= | CA1640937740 | BCKDHB | c.488A= (p.Glu163=) c.278A= (p.Glu93=) n.572A= n.518A= n.511A= | |
| 6 | g.80168885A>C | CA364657711 | BCKDHB | c.488A>C (p.Glu163Ala) c.278A>C (p.Glu93Ala) n.572A>C n.518A>C n.511A>C | |
| 6 | g.80168885A>G | CA364657712 | BCKDHB | c.488A>G (p.Glu163Gly) c.278A>G (p.Glu93Gly) n.572A>G n.518A>G n.511A>G | |
| 6 | g.80168885A>T | CA224283 | BCKDHB | c.488A>T (p.Glu163Val) c.278A>T (p.Glu93Val) n.572A>T n.518A>T n.511A>T | ClinVar dbSNP |
| 6 | g.80168886A>C | CA364657713 | BCKDHB | c.489A>C (p.Glu163Asp) c.279A>C (p.Glu93Asp) n.573A>C n.519A>C n.512A>C | |
| 6 | g.80168886A>G | CA451072785 | BCKDHB | c.489A>G (p.Glu163=) c.279A>G (p.Glu93=) n.573A>G n.519A>G n.512A>G | |
| 6 | g.80168886A>T | CA364657714 | BCKDHB | c.489A>T (p.Glu163Asp) c.279A>T (p.Glu93Asp) n.573A>T n.519A>T n.512A>T | |
| 6 | g.80168887G>A | CA364657715 | BCKDHB | c.490G>A (p.Ala164Thr) c.280G>A (p.Ala94Thr) n.574G>A n.520G>A n.513G>A | |
| 6 | g.80168887G>C | CA364657716 | BCKDHB | c.490G>C (p.Ala164Pro) c.280G>C (p.Ala94Pro) n.574G>C n.520G>C n.513G>C | |
| 6 | g.80168887G>T | CA364657717 | BCKDHB | c.490G>T (p.Ala164Ser) c.280G>T (p.Ala94Ser) n.574G>T n.520G>T n.513G>T | |
| 6 | g.80168888C>A | CA364657718 | BCKDHB | c.491C>A (p.Ala164Asp) c.281C>A (p.Ala94Asp) n.575C>A n.521C>A n.514C>A | |
| 6 | g.80168888C>G | CA364657719 | BCKDHB | c.491C>G (p.Ala164Gly) c.281C>G (p.Ala94Gly) n.575C>G n.521C>G n.514C>G | |
| 6 | g.80168888C>T | CA364657720 | BCKDHB | c.491C>T (p.Ala164Val) c.281C>T (p.Ala94Val) n.575C>T n.521C>T n.514C>T | |
| 6 | g.80168889T>A | CA451072786 | BCKDHB | c.492T>A (p.Ala164=) c.282T>A (p.Ala94=) n.576T>A n.522T>A n.515T>A | |
| 6 | g.80168889T>C | CA451072787 | BCKDHB | c.492T>C (p.Ala164=) c.282T>C (p.Ala94=) n.576T>C n.522T>C n.515T>C | |
| 6 | g.80168889T>G | CA451072788 | BCKDHB | c.492T>G (p.Ala164=) c.282T>G (p.Ala94=) n.576T>G n.522T>G n.515T>G | |
| 6 | g.80168890G>A | CA364657721 | BCKDHB | c.493G>A (p.Ala165Thr) c.283G>A (p.Ala95Thr) n.577G>A n.523G>A n.516G>A | |
| 6 | g.80168890G>C | CA224286 | BCKDHB | c.493G>C (p.Ala165Pro) c.283G>C (p.Ala95Pro) n.577G>C n.523G>C n.516G>C | ClinVar dbSNP |
| 6 | g.80168890G= | CA1640937741 | BCKDHB | c.493G= (p.Ala165=) c.283G= (p.Ala95=) n.577G= n.523G= n.516G= | |
| 6 | g.80168890G>T | CA364657722 | BCKDHB | c.493G>T (p.Ala165Ser) c.283G>T (p.Ala95Ser) n.577G>T n.523G>T n.516G>T | |
| 6 | g.80168891C>A | CA364657724 | BCKDHB | c.494C>A (p.Ala165Asp) c.284C>A (p.Ala95Asp) n.578C>A n.524C>A n.517C>A | |
| 6 | g.80168891C= | CA1640937742 | BCKDHB | c.494C= (p.Ala165=) c.284C= (p.Ala95=) n.578C= n.524C= n.517C= | |
| 6 | g.80168891C>G | CA364657725 | BCKDHB | c.494C>G (p.Ala165Gly) c.284C>G (p.Ala95Gly) n.578C>G n.524C>G n.517C>G | |
| 6 | g.80168891C>T | CA364657723 | BCKDHB | c.494C>T (p.Ala165Val) c.284C>T (p.Ala95Val) n.578C>T n.524C>T n.517C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168892C>A | CA451072789 | BCKDHB | c.495C>A (p.Ala165=) c.285C>A (p.Ala95=) n.579C>A n.525C>A n.518C>A | |
| 6 | g.80168892C= | CA1640937743 | BCKDHB | c.495C= (p.Ala165=) c.285C= (p.Ala95=) n.579C= n.525C= n.518C= | |
| 6 | g.80168892C>G | CA451072790 | BCKDHB | c.495C>G (p.Ala165=) c.285C>G (p.Ala95=) n.579C>G n.525C>G n.518C>G | |
| 6 | g.80168892C>T | CA451072791 | BCKDHB | c.495C>T (p.Ala165=) c.285C>T (p.Ala95=) n.579C>T n.525C>T n.518C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168893A= | CA1640937744 | BCKDHB | c.496A= (p.Lys166=) c.286A= (p.Lys96=) n.580A= n.526A= n.519A= | |
| 6 | g.80168893A>C | CA364657728 | BCKDHB | c.496A>C (p.Lys166Gln) c.286A>C (p.Lys96Gln) n.580A>C n.526A>C n.519A>C | |
| 6 | g.80168893A>G | CA364657726 | BCKDHB | c.496A>G (p.Lys166Glu) c.286A>G (p.Lys96Glu) n.580A>G n.526A>G n.519A>G | |
| 6 | g.80168893A>T | CA364657727 | BCKDHB | c.496A>T (p.Lys166Ter) c.286A>T (p.Lys96Ter) n.580A>T n.526A>T n.519A>T | ClinVar dbSNP |
| 6 | g.80168894A= | CA1640937745 | BCKDHB | c.497A= (p.Lys166=) c.287A= (p.Lys96=) n.581A= n.527A= n.520A= | |
| 6 | g.80168894A>C | CA364657729 | BCKDHB | c.497A>C (p.Lys166Thr) c.287A>C (p.Lys96Thr) n.581A>C n.527A>C n.520A>C | dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.80168894A>G | CA364657730 | BCKDHB | c.497A>G (p.Lys166Arg) c.287A>G (p.Lys96Arg) n.581A>G n.527A>G n.520A>G | |
| 6 | g.80168894A>T | CA364657731 | BCKDHB | c.497A>T (p.Lys166Met) c.287A>T (p.Lys96Met) n.581A>T n.527A>T n.520A>T | ClinVar |
| 6 | g.80168895G>A | CA451072792 | BCKDHB | c.498G>A (p.Lys166=) c.288G>A (p.Lys96=) n.582G>A n.528G>A n.521G>A | ClinVar dbSNP |
| 6 | g.80168895G>C | CA364657732 | BCKDHB | c.498G>C (p.Lys166Asn) c.288G>C (p.Lys96Asn) n.582G>C n.528G>C n.521G>C | ClinVar dbSNP |
| 6 | g.80168895G= | CA1640937746 | BCKDHB | c.498G= (p.Lys166=) c.288G= (p.Lys96=) n.582G= n.528G= n.521G= | |
| 6 | g.80168895G>T | CA364657733 | BCKDHB | c.498G>T (p.Lys166Asn) c.288G>T (p.Lys96Asn) n.582G>T n.528G>T n.521G>T | |
| 6 | g.80168896T>A | CA364657734 | BCKDHB | c.499T>A (p.Tyr167Asn) c.289T>A (p.Tyr97Asn) n.583T>A n.529T>A n.522T>A | |
| 6 | g.80168896T>C | CA3902640 | BCKDHB | c.499T>C (p.Tyr167His) c.289T>C (p.Tyr97His) n.583T>C n.529T>C n.522T>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.80168896T>G | CA364657735 | BCKDHB | c.499T>G (p.Tyr167Asp) c.289T>G (p.Tyr97Asp) n.583T>G n.529T>G n.522T>G | |
| 6 | g.80168896T= | CA1640937747 | BCKDHB | c.499T= (p.Tyr167=) c.289T= (p.Tyr97=) n.583T= n.529T= n.522T= | |
| 6 | g.80168903_80168908del | CA2679498025 | BCKDHB | c.506_511del (p.Tyr169_Arg170del) c.296_301del (p.Tyr99_Arg100del) n.590_595del n.536_541del n.529_534del | gnomAD v4 |